Most Difficult Diseases To Diagnose

Hemochromatosis

Hemochromatosis, a hereditary disease, results in the patient’s body absorbing too much iron. Until recently, many physicians were taught this condition was extremely rare, resulting in many misdiagnoses. To make matters worse, early symptoms of hemochromatosis are generally undiagnosed until significant damage becomes apparent. Not every hemochromatosis patient will display all possible symptoms and symptoms may develop in a random order. Symptoms seen in this condition include fatigue and weakness, joint pain, abdominal pain, heart failure, liver failure, diabetes, as well as a loss of sex drive. Two key tests used to diagnose hemochromatosis include serum ferritin and serum transferrin saturation. Doctors may also use MRIs, liver function tests, liver biopsy, and mutation tests.